MECP2 gene mutation analysis in the British and Italian Rett Syndrome patients: hot spot map of the most recurrent mutations and bioinformatic analysis of a new MECP2 conserved region
UNSPECIFIED (2001) MECP2 gene mutation analysis in the British and Italian Rett Syndrome patients: hot spot map of the most recurrent mutations and bioinformatic analysis of a new MECP2 conserved region. In: yorld Congress on Rett Syndrome, KARUIZAWA, JAPAN, JUL 24-27, 2000. Published in: BRAIN & DEVELOPMENT (Suppl. 1). S246-S250.Full text not available from this repository.
Rett syndrome (RTT) is an X-linked dominant neurological disorder, which appears to be the most common genetic cause of profound combined intellectual and physical disability in Caucasian females. This syndrome has been associated with mutations of the MECP2 gene, a transcriptional repressor of unknown target genes. We report a detailed mutational analysis of a large cohort of RTT patients from the UK and Italy. This study has permitted us to produce a hot spot map of the mutations identified. Bioinformatic analysis of the mutations, taking advantage of structural and evolutionary data, leads us to postulate the existence of a new functional domain in the MeCP2 protein, conserved among brain-specific regulatory factors. (C) 2001 Elsevier Science B.V. All rights reserved.
|Item Type:||Conference Item (UNSPECIFIED)|
|Subjects:||R Medicine > RC Internal medicine > RC0321 Neuroscience. Biological psychiatry. Neuropsychiatry|
|Journal or Publication Title:||BRAIN & DEVELOPMENT|
|Publisher:||ELSEVIER SCIENCE BV|
|Number of Pages:||5|
|Title of Event:||yorld Congress on Rett Syndrome|
|Location of Event:||KARUIZAWA, JAPAN|
|Date(s) of Event:||JUL 24-27, 2000|
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